| Symbol |
Name |
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADK
|
adenosine kinase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALG6
|
ALG6, alpha-1,3-glucosyltransferase
|
|
ALG8
|
ALG8, alpha-1,3-glucosyltransferase
|
|
ALG9
|
ALG9, alpha-1,2-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BLVRA
|
biliverdin reductase A
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CYC1
|
cytochrome c-1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DDOST
|
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLD
|
dihydrolipoamide dehydrogenase
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ENG
|
endoglin
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FADD
|
Fas (TNFRSF6)-associated via death domain
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FECH
|
ferrochelatase
|
|
FH
|
fumarate hydratase
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GDF2
|
growth differentiation factor 2
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IL21R
|
interleukin 21 receptor
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
JAK2
|
Janus kinase 2
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MEFV
|
Mediterranean fever
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
MPI
|
mannose phosphate isomerase
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MTM1
|
myotubularin 1
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCLN
|
occludin
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
|
PCK2
|
phosphoenolpyruvate carboxykinase 2 (mitochondrial)
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SERPINA1
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
SMAD4
|
SMAD family member 4
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TJP2
|
tight junction protein 2
|
|
TMEM67
|
transmembrane protein 67
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
